SH2B3

SH2B adaptor protein 3
OMIM: 605093, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SH2B3 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Predisposition to haematological malignancies
    • Myeloproliferation and multi-organ autoimmunity
    • juvenile myelomonocytic leukemia MONDO:0011908, SH2B3-related

    Green SH2B3 in Mendeliome


    Version 1.2374

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Predisposition to haematological malignancies
    • Myeloproliferation and multi-organ autoimmunity
    • juvenile myelomonocytic leukemia MONDO:0011908, SH2B3-related

    Green SH2B3 in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 0.131

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Predisposition to haematological malignancies

    Green SH2B3 in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 1.10

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Predisposition to haematological malignancies
    • Myeloproliferation and multi-organ autoimmunity
    • juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related

    Amber SH2B3 in Red cell disorders


    Level 2: Haematological disorders
    Version 1.29

    review Other
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Erythrocytosis, somatic, MIM# 133100
    Tags
    • somatic